A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739495



Internal ID3289991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:628317..629102hg38UCSC Ensembl
OuterchrX:589052..589837hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6964449, essv6904137, essv6911758, essv6964451, essv6964448, essv6782673, essv6814724, essv6957757, essv6975585, essv6826870, essv6887376, essv6948278, essv6790991, essv6930931, essv6771260, essv6727573, essv6915460, essv6849831, essv6919338, essv6943956, essv6690873, essv6948279, essv6687630, essv6927227, essv6786891, essv6715969, essv6837879, essv6705458, essv6712281, essv6719871
SamplesSSM065, SSM027, SSM013, SSM086, SSM036, SSM042, SSM040, SSM043, SSM035, SSM020, SSM016, SSM024, SSM083, SSM077, SSM017, SSM029, SSM069, SSM046, SSM019, SSM096, SSM023, SSM068, SSM044, SSM015, SSM026, SSM070, SSM080
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)esv2739495
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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