A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10284373



Internal ID2833237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111232..210115998hg38UCSC Ensembl
Innerchr1:210111300..210115931hg38UCSC Ensembl
Outerchr1:210111165..210116066hg38UCSC Ensembl
chr1:210284577..210289343hg19UCSC Ensembl
Innerchr1:210284645..210289276hg19UCSC Ensembl
Outerchr1:210284510..210289411hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384767
hg194767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588715
Supporting Variants
SamplesHG02497
Known GenesSYT14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10284373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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