A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739932



Internal ID10323568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5669311..5669951hg38UCSC Ensembl
OuterchrX:5587352..5587992hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760390, essv6861448, essv6908083, essv6964520, essv6795170, essv6719912, essv6903585, essv6791029, essv6866184, essv6855928, essv6671852, essv6948315, essv6957823, essv6672709, essv6829342, essv6837913, essv6849889, essv6708835, essv6712323, essv6975660, essv6723730, essv6667816, essv6799403, essv6943998
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM087, SSM042, SSM088, SSM002, SSM041, SSM023, SSM061, SSM029, SSM026, SSM089, SSM031, SSM044, SSM001, SSM014, SSM086, SSM072, SSM010, SSM070, SSM030
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)esv2739932
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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