A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739889



Internal ID10323525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:2844428..2844689hg38UCSC Ensembl
OuterchrX:2762469..2762730hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948311, essv6818764, essv6957813, essv6866178, essv6671845
SamplesSSM024, SSM026, SSM089, SSM031, SSM078
Known GenesGYG2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739889
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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