A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13039747



Internal ID5185075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156693725..156694194hg38UCSC Ensembl
Innerchr7:156693730..156694189hg38UCSC Ensembl
Outerchr7:156693720..156694199hg38UCSC Ensembl
chr7:156486419..156486888hg19UCSC Ensembl
Innerchr7:156486424..156486883hg19UCSC Ensembl
Outerchr7:156486414..156486893hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615674
Supporting Variants
SamplesNA18608
Known GenesLMBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13039747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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