A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670004



Internal ID9936109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65094951..65784399hg38UCSC Ensembl
chr7:64555329..65249386hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38689449
hg19694058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1213e199
Supporting Variantsessv5746068, essv5672496, essv6066709, essv5785471, essv5650090, essv6471444, essv6595231, essv5790292, essv6045985, essv6210354, essv6242905, essv5675390
SamplesNA19909, NA18565, HG00315, NA18616, NA20796, NA20798, NA19062, NA19985, HG00404, HG00146, NA20797, HG00174
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670004
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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