A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12095965



Internal ID6612352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150704459..150705763hg38UCSC Ensembl
Innerchr5:150704466..150705756hg38UCSC Ensembl
Outerchr5:150704452..150705770hg38UCSC Ensembl
chr5:150084021..150085325hg19UCSC Ensembl
Innerchr5:150084028..150085318hg19UCSC Ensembl
Outerchr5:150084014..150085332hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381305
hg191305
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607166
Supporting Variants
SamplesNA20778
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12095965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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