A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761037



Internal ID10377344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37962883..37998986hg38UCSC Ensembl
Innerchr6:37930659..37966762hg19UCSC Ensembl
Innerchr6:38038637..38074740hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3836104
hg1936104
hg1836104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013639, essv7013637, essv7013640, essv7013638
SamplesRW_0329, RW_0181, RW_0012, RW_0567
Known GenesZFAND3
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)esv2761037
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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