A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764257



Internal ID10031607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13014263..13022407hg38UCSC Ensembl
Innerchr10:13056263..13064407hg19UCSC Ensembl
Innerchr10:13096269..13104413hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg388145
hg198145
hg188145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994433, essv6994418, essv6994421, essv6994422, essv6994431, essv6994426, essv6994436, essv6994424, essv6994417, essv6994427, essv6994419, essv6994432, essv6994429, essv6994435, essv6994428, essv6994416, essv6994415, essv6994430, essv6994420, essv6994425, essv6994414
SamplesSW_1149, SW_1313, SW_0802, SW_1371, SW_1314, SW_1013, SW_1258, SW_1547, SW_0323, SW_1051, SW_0090, SW_1086, SW_1168, SW_1431, SW_0702, SW_1433, SW_0021, SW_0603, SW_1223, SW_1074, SW_0198
Known GenesCCDC3
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)esv2764257
Frequency
Sample Size1109
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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