A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10219305



Internal ID6867461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188040414..188044514hg38UCSC Ensembl
Innerchr1:188040416..188044512hg38UCSC Ensembl
Outerchr1:188040412..188044516hg38UCSC Ensembl
chr1:188009545..188013645hg19UCSC Ensembl
Innerchr1:188009547..188013643hg19UCSC Ensembl
Outerchr1:188009543..188013647hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588183
Supporting Variants
SamplesNA21094
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10219305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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