A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757461



Internal ID18731707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:24972257..24975248hg38UCSC Ensembl
OuterchrX:24972218..24975288hg38UCSC Ensembl
InnerchrX:24990374..24993365hg19UCSC Ensembl
OuterchrX:24990335..24993405hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg383071
hg193071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558714
Supporting Variants
Samples
Known GenesPOLA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757461
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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