A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12715827



Internal ID6071906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28984677..28994054hg38UCSC Ensembl
Innerchr7:28984707..28994025hg38UCSC Ensembl
Outerchr7:28984648..28994084hg38UCSC Ensembl
chr7:29024293..29033670hg19UCSC Ensembl
Innerchr7:29024323..29033641hg19UCSC Ensembl
Outerchr7:29024264..29033700hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg389378
hg199378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612683
Supporting Variants
SamplesNA19461
Known GenesLOC100506497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12715827
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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