A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672925



Internal ID9939030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39508717..39514073hg38UCSC Ensembl
Outerchr7:39508346..39514443hg38UCSC Ensembl
Innerchr7:39548316..39553672hg19UCSC Ensembl
Outerchr7:39547945..39554042hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386098
hg196098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1195e199
Supporting Variantsessv5399626, essv6105903, essv5714531, essv6279816, essv5655708, essv5762951, essv5897172, essv5646994, essv5887476, essv5627040, essv6390035
SamplesHG00187, HG00318, HG00177, HG00282, HG00328, HG00285, HG00342, HG00174, HG00280, HG00343, HG00372
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672925
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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