A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760456



Internal ID10027819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41354660..41380422hg38UCSC Ensembl
Innerchr17:39510912..39536674hg19UCSC Ensembl
Innerchr17:36764438..36790200hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825763
hg1925763
hg1825763
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024609, essv7024557, essv7024604, essv7024569, essv7024552, essv7024544, essv7024577, essv7024599, essv7024572, essv7024566, essv7024603, essv7024605, essv7024608, essv7024585, essv7024546, essv7024588, essv7024558, essv7024596, essv7024586, essv7024553, essv7024592, essv7024565, essv7024597, essv7024548, essv7024594, essv7024582, essv7024562, essv7024593, essv7024555, essv7024570, essv7024602, essv7024551, essv7024580, essv7024571, essv7024550, essv7024595, essv7024573, essv7024563, essv7024568, essv7024581, essv7024576, essv7024549, essv7024606, essv7024574, essv7024587, essv7024554, essv7024584, essv7024601, essv7024591, essv7024575, essv7024564, essv7024583, essv7024559, essv7024547, essv7024607, essv7024543, essv7024561, essv7024560, essv7024579, essv7024598, essv7024590
SamplesRW_0274, RW_0635, RW_0087, RW_0636, RW_0591, RW_0553, RW_0039, RW_0058, RW_0345, RW_0007, RW_0582, RW_0595, RW_0604, RW_0606, RW_0650, RW_0217, RW_0304, RW_0218, RW_0536, RW_0353, RW_0017, RW_0112, RW_0233, RW_0592, RW_0577, RW_0272, RW_0118, RW_0659, RW_0103, RW_0575, RW_0321, RW_0286, RW_0530, RW_0310, RW_0288, RW_0308, RW_0523, RW_0042, RW_0564, RW_0341, RW_0073, RW_0513, RW_0326, RW_0229, RW_0662, RW_0108, RW_0149, RW_0183, RW_0154, RW_0170, RW_0627, RW_0277, RW_0306, RW_0050, RW_0263, RW_0223, RW_0072, RW_0018, RW_0336, RW_0162
Known GenesKRT33B, KRT34
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760456
Frequency
Sample Size1109
Observed Gain4
Observed Loss57
Observed Complex0
Frequencyn/a


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