A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12966821



Internal ID2968637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129445762..129446748hg38UCSC Ensembl
Innerchr7:129445763..129446747hg38UCSC Ensembl
Outerchr7:129445761..129446749hg38UCSC Ensembl
chr7:129085603..129086589hg19UCSC Ensembl
Innerchr7:129085604..129086588hg19UCSC Ensembl
Outerchr7:129085602..129086590hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614998
Supporting Variants
SamplesHG00339
Known GenesSTRIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12966821
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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