A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12971915



Internal ID2567440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130208583..130215765hg38UCSC Ensembl
Innerchr7:130208606..130215743hg38UCSC Ensembl
Outerchr7:130208561..130215788hg38UCSC Ensembl
chr7:129848423..129855605hg19UCSC Ensembl
Innerchr7:129848446..129855583hg19UCSC Ensembl
Outerchr7:129848401..129855628hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg387183
hg197183
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615018
Supporting Variants
SamplesHG02278
Known GenesSSMEM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12971915
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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