A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761013



Internal ID10028375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869295..29969534hg38UCSC Ensembl
Innerchr6:29837072..29937311hg19UCSC Ensembl
Innerchr6:29945051..30045290hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38100240
hg19100240
hg18100240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013574, essv7013576, essv7013565, essv7013572, essv7013582, essv7013557, essv7013552, essv7013566, essv7013554, essv7013569, essv7013581, essv7013551, essv7013571, essv7013568, essv7013562, essv7013548, essv7013580, essv7013559, essv7013558, essv7013553, essv7013573, essv7013561, essv7013555, essv7013570, essv7013577, essv7013579, essv7013547, essv7013564, essv7013546, essv7013575, essv7013560, essv7013549, essv7013550, essv7013563
SamplesRW_0010, RW_0278, RW_0193, RW_0176, RW_0020, RW_0562, RW_0184, RW_0093, RW_0292, RW_0277, RW_0144, RW_0059, RW_0300, RW_0050, RW_0529, RW_0170, RW_0058, RW_0004, RW_0552, RW_0575, RW_0132, RW_0558, RW_0047, RW_0279, RW_0113, RW_0233, RW_0017, RW_0251, RW_0527, RW_0139, RW_0114, RW_0238, RW_0515, RW_0022
Known GenesHCG4B, HLA-A, HLA-H
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)esv2761013
Frequency
Sample Size1109
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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