A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12973595



Internal ID6159190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133326980..133329494hg38UCSC Ensembl
Innerchr7:133326980..133329494hg38UCSC Ensembl
Outerchr7:133326900..133329584hg38UCSC Ensembl
chr7:133011734..133014248hg19UCSC Ensembl
Innerchr7:133011734..133014248hg19UCSC Ensembl
Outerchr7:133011654..133014338hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382515
hg192515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615067
Supporting Variants
SamplesNA19701
Known GenesEXOC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12973595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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