A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13003808



Internal ID617307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149033294..149034312hg38UCSC Ensembl
Innerchr7:149033314..149034293hg38UCSC Ensembl
Outerchr7:149033275..149034332hg38UCSC Ensembl
chr7:148730386..148731404hg19UCSC Ensembl
Innerchr7:148730406..148731385hg19UCSC Ensembl
Outerchr7:148730367..148731424hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615425
Supporting Variants
SamplesHG00269
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13003808
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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