A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739505



Internal ID5050237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:607742..608140hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6743466, essv6782675, essv6719873, essv6829098, essv6670043, essv6952369, essv6911759, essv6861410, essv6740360, essv6684387, essv6708812, essv6751937, essv6964862, essv6786892, essv6855874, essv6690876, essv6964452, essv6749064, essv6891687, essv6904139, essv6900054, 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
Method
Analysis
PlatformIllumina HiSeq2000
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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