A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10879767



Internal ID6305885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233744643..233756464hg38UCSC Ensembl
Innerchr2:233745143..233755964hg38UCSC Ensembl
Outerchr2:233743643..233757464hg38UCSC Ensembl
chr2:234653289..234665110hg19UCSC Ensembl
Innerchr2:234653789..234664610hg19UCSC Ensembl
Outerchr2:234652289..234666110hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811822
hg1911822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594682
Supporting Variants
SamplesNA19908
Known GenesLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10879767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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