A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12744605



Internal ID2207316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38614276..38616235hg38UCSC Ensembl
Innerchr7:38614301..38616211hg38UCSC Ensembl
Outerchr7:38614252..38616260hg38UCSC Ensembl
chr7:38653876..38655835hg19UCSC Ensembl
Innerchr7:38653901..38655811hg19UCSC Ensembl
Outerchr7:38653852..38655860hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381960
hg191960
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612887
Supporting Variants
SamplesHG01986
Known GenesAMPH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12744605
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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