A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12756619



Internal ID3916395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44377882..44379959hg38UCSC Ensembl
Innerchr7:44377885..44379957hg38UCSC Ensembl
Outerchr7:44377880..44379962hg38UCSC Ensembl
chr7:44417481..44419558hg19UCSC Ensembl
Innerchr7:44417484..44419556hg19UCSC Ensembl
Outerchr7:44417479..44419561hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613008
Supporting Variants
SamplesHG03571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12756619
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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