A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723905



Internal ID10307541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225567428..225652639hg38UCSC Ensembl
Outerchr1:225755130..225840341hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3885212
hg1985212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951784, essv6682982, essv6666996, essv6955026, essv6874848, essv6961825, essv6756675, essv6972669, essv6738985, essv6786187, essv6736121, essv6733618, essv6878287, essv6950738, essv6832747, essv6917617, essv6813376, essv6902711, essv6950739, essv6689419, essv6769703, essv6696976
SamplesSSM059, SSM036, SSM027, SSM065, SSM013, SSM009, SSM050, SSM002, SSM092, SSM029, SSM026, SSM017, SSM006, SSM082, SSM025, SSM034, SSM004, SSM052, SSM049, SSM030, SSM012
Known GenesENAH
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)esv2723905
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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