A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667313



Internal ID9586732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88956626..88966757hg38UCSC Ensembl
Outerchr7:88956589..88966807hg38UCSC Ensembl
Innerchr7:88585940..88596071hg19UCSC Ensembl
Outerchr7:88585903..88596121hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3810219
hg1910219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5503959, essv6122609
SamplesNA12763, HG00275
Known GenesZNF804B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667313
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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