A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12742900



Internal ID1151098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38482870..38484805hg38UCSC Ensembl
Innerchr7:38482879..38484796hg38UCSC Ensembl
Outerchr7:38482861..38484814hg38UCSC Ensembl
chr7:38522470..38524405hg19UCSC Ensembl
Innerchr7:38522479..38524396hg19UCSC Ensembl
Outerchr7:38522461..38524414hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612883
Supporting Variants
SamplesHG01028
Known GenesAMPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12742900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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