A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740178



Internal ID9974520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54914013..54914255hg38UCSC Ensembl
OuterchrX:54940446..54940688hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849934, essv6861465, essv6834242, essv6964555, essv6671884, essv6826921, essv6805831, essv6677052, essv6957868, essv6866207
SamplesSSM027, SSM074, SSM088, SSM026, SSM089, SSM032, SSM031, SSM086, SSM082, SSM080
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)esv2740178
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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