A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10224502



Internal ID1687430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188702380..188841249hg38UCSC Ensembl
Innerchr1:188702406..188841224hg38UCSC Ensembl
Outerchr1:188702355..188841275hg38UCSC Ensembl
chr1:188671511..188810380hg19UCSC Ensembl
Innerchr1:188671537..188810355hg19UCSC Ensembl
Outerchr1:188671486..188810406hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38138870
hg19138870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588205
Supporting Variants
SamplesHG01565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10224502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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