A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740261



Internal ID10323897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82726800..82732667hg38UCSC Ensembl
OuterchrX:81982249..81988116hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg385868
hg195868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734700, essv6903863, essv6841743, essv6969946, essv6927286
SamplesSSM002, SSM028, SSM084, SSM019, SSM049
Known Genes
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)esv2740261
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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