A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879719



Internal ID881535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233720749..233735394hg38UCSC Ensembl
Innerchr2:233720780..233735364hg38UCSC Ensembl
Outerchr2:233720719..233735425hg38UCSC Ensembl
chr2:234629395..234644040hg19UCSC Ensembl
Innerchr2:234629426..234644010hg19UCSC Ensembl
Outerchr2:234629365..234644071hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3814646
hg1914646
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594679
Supporting Variants
SamplesHG02601
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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