A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724606



Internal ID9958908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:230275629..230276316hg38UCSC Ensembl
Outerchr1:230411375..230412062hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38688
hg19688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961839, essv6714422, essv6742296, essv6950744, essv6878376, essv6886126, essv6789349, essv6786265, essv6729800, essv6747935, essv6804563, essv6955037, essv6864182, essv6917624, essv6753658, essv6816815, essv6921923, essv6972678, essv6801768, essv6793494
SamplesSSM027, SSM053, SSM078, SSM043, SSM089, SSM025, SSM071, SSM012, SSM056, SSM017, SSM009, SSM029, SSM047, SSM073, SSM096, SSM074, SSM026, SSM018, SSM058, SSM070
Known GenesGALNT2
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)esv2724606
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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