A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733450



Internal ID9967774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:14708649..14709178hg38UCSC Ensembl
Outerchr10:14750648..14751177hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968618, essv6803143, essv6740774, essv6842121, essv6923977, essv6815166, essv6811965, essv6845686, essv6976509, essv6716440, essv6935753, essv6939978
SamplesSSM022, SSM084, SSM043, SSM077, SSM085, SSM009, SSM029, SSM021, SSM052, SSM004, SSM018, SSM076
Known GenesFAM107B
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)esv2733450
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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