A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12750044



Internal ID6197657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39839420..39845209hg38UCSC Ensembl
Innerchr7:39839420..39845209hg38UCSC Ensembl
Outerchr7:39839224..39845372hg38UCSC Ensembl
chr7:39879019..39884808hg19UCSC Ensembl
Innerchr7:39879019..39884808hg19UCSC Ensembl
Outerchr7:39878823..39884971hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385790
hg195790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612918
Supporting Variants
SamplesNA19726
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12750044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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