A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724195



Internal ID10307831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227571744..227572165hg38UCSC Ensembl
Outerchr1:227759445..227759866hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764299, essv6745083, essv6844032, essv6786220, essv6972671, essv6686310, essv6750750, essv6736122, essv6853504, essv6738989, essv6918263, essv6696987, essv6733619, essv6933491, essv6878342, essv6697124, essv6753652, essv6910228, essv6759202, essv6699792, essv6917621, essv6690820, essv6874850, essv6747933, essv6801763, essv6742293, essv6756678
SamplesSSM059, SSM087, SSM038, SSM039, SSM009, SSM073, SSM050, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM017, SSM035, SSM003, SSM001, SSM006, SSM085, SSM015, SSM053, SSM055, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesZNF678
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)esv2724195
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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