A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671249



Internal ID9937354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65180171..65686463hg38UCSC Ensembl
Outerchr7:65180137..65686498hg38UCSC Ensembl
Innerchr7:64640549..65151430hg19UCSC Ensembl
Outerchr7:64640515..65151465hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38506362
hg19510951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1213e199
Supporting Variantsessv6072165, essv5856761, essv6419052
SamplesNA12340, NA19384, NA12275
Known GenesINTS4L2, LOC441242, ZNF92
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671249
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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