A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735517



Internal ID9969847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:36379377..37586249hg38UCSC Ensembl
Outerchr10:36668305..37875177hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg381206873
hg191206873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861988, essv6672635, essv6838319, essv6695205, essv6743789, essv6783219, essv6783218, essv6935777, essv6850674, essv6716463, essv6672636, essv6702107, essv6827378, essv6976555, essv6965255, essv6861986, essv6870493, essv6695206, essv6768987, essv6936296, essv6856691, essv6842136, essv6806138, essv6716462, essv6809136, essv6691329, essv6850673, essv6965254, essv6827379, essv6976554, essv6806139
SamplesSSM036, SSM008, SSM083, SSM027, SSM075, SSM087, SSM039, SSM074, SSM088, SSM084, SSM090, SSM021, SSM029, SSM003, SSM031, SSM086, SSM068, SSM053, SSM080, SSM037, SSM043
Known GenesANKRD30A, LINC00993
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)esv2735517
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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