A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12987145



Internal ID3954545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142272984..142304988hg38UCSC Ensembl
Innerchr7:142273004..142304968hg38UCSC Ensembl
Outerchr7:142272964..142305008hg38UCSC Ensembl
chr7:141972803..142004808hg19UCSC Ensembl
Innerchr7:141972823..142004788hg19UCSC Ensembl
Outerchr7:141972783..142004828hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3832005
hg1932006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615273
Supporting Variants
SamplesHG03604
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12987145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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