A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739505



Internal ID3290001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:647007..647405hg38UCSC Ensembl
OuterchrX:607742..608140hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743466, essv6782675, essv6719873, essv6829098, essv6670043, essv6952369, essv6911759, essv6861410, essv6740360, essv6684387, essv6708812, essv6751937, essv6964862, essv6786892, essv6855874, essv6690876, essv6964452, essv6749064, essv6891687, essv6900054, essv6904139, essv6841682, essv6790993, essv6765280, essv6948281, essv6876069, essv6903318, essv6712284, essv6837880
SamplesSSM010, SSM027, SSM092, SSM013, SSM053, SSM036, SSM084, SSM042, SSM088, SSM025, SSM057, SSM001, SSM024, SSM083, SSM041, SSM012, SSM100, SSM056, SSM069, SSM002, SSM034, SSM063, SSM087, SSM052, SSM068, SSM044, SSM004, SSM015, SSM070
Known GenesSHOX
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)esv2739505
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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