A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740626



Internal ID10324262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153345497..153346123hg38UCSC Ensembl
OuterchrX:152610955..152611581hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731413, essv6775082, essv6969989, essv6919431, essv6671952, essv6795246, essv6931054, essv6771369, essv6694773, essv6939591, essv6701662, essv6791113, essv6787001
SamplesSSM071, SSM065, SSM039, SSM028, SSM047, SSM069, SSM017, SSM031, SSM066, SSM020, SSM037, SSM022, SSM070
Known GenesZNF275
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)esv2740626
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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