A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12930476



Internal ID5385873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112694906..112695352hg38UCSC Ensembl
Innerchr7:112694922..112695336hg38UCSC Ensembl
Outerchr7:112694890..112695368hg38UCSC Ensembl
chr7:112334961..112335407hg19UCSC Ensembl
Innerchr7:112334977..112335391hg19UCSC Ensembl
Outerchr7:112334945..112335423hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614627
Supporting Variants
SamplesNA18934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12930476
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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