A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12874885



Internal ID2876701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:83822470..83987422hg38UCSC Ensembl
Innerchr7:83822470..83987422hg38UCSC Ensembl
Outerchr7:83821970..83987922hg38UCSC Ensembl
chr7:83451786..83616738hg19UCSC Ensembl
Innerchr7:83451786..83616738hg19UCSC Ensembl
Outerchr7:83451286..83617238hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38164953
hg19164953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613949
Supporting Variants
SamplesHG04054
Known GenesSEMA3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12874885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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