A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12707911



Internal ID3463889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:24698120..24699524hg38UCSC Ensembl
Innerchr7:24698120..24699524hg38UCSC Ensembl
Outerchr7:24697923..24699725hg38UCSC Ensembl
chr7:24737739..24739143hg19UCSC Ensembl
Innerchr7:24737739..24739143hg19UCSC Ensembl
Outerchr7:24737542..24739344hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612588
Supporting Variants
SamplesHG03084
Known GenesDFNA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12707911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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