A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721194



Internal ID9955490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178447608..178450957hg38UCSC Ensembl
Outerchr2:179312335..179315684hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844234, essv6922187, essv6710995, essv6883561, essv6953629, essv6889380, essv6807715, essv6844233, essv6953640, essv6817093, essv6762094, essv6707644, essv6813528, essv6826709
SamplesSSM075, SSM097, SSM042, SSM002, SSM041, SSM018, SSM062, SSM085, SSM078, SSM077, SSM095, SSM004
Known GenesMIR548N, PRKRA
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)esv2721194
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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