A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12908911



Internal ID2910727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100138319..100141368hg38UCSC Ensembl
Innerchr7:100138319..100141368hg38UCSC Ensembl
Outerchr7:100137819..100141868hg38UCSC Ensembl
chr7:99735942..99738991hg19UCSC Ensembl
Innerchr7:99735942..99738991hg19UCSC Ensembl
Outerchr7:99735442..99739491hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614290
Supporting Variants
SamplesNA19338
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12908911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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