A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740434



Internal ID10324070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120509436..120509780hg38UCSC Ensembl
OuterchrX:119643291..119643635hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890657, essv6799442, essv6859787, essv6805852, essv6712352, essv6698269, essv6830673, essv6822919, essv6866234, essv6894011, essv6795223, essv6719974, essv6964588, essv6687715, essv6861493, essv6952471, essv6957925, essv6878989, essv6881807, essv6791089, essv6690962, essv6856026, essv6849996, essv6837939, essv6870200, essv6923580, essv6684447, essv6975759, essv6908147, essv6814794, essv6808814, essv6826944, essv6892676, essv6933006, essv6786988, essv6931033, essv6948350
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM087, SSM038, SSM097, SSM093, SSM074, SSM042, SSM088, SSM090, SSM018, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM003, SSM044, SSM014, SSM086, SSM081, SSM072, SSM020, SSM080, SSM077, SSM070, SSM025, SSM034, SSM098, SSM012
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)esv2740434
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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