A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721788



Internal ID10305424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238870985..238871693hg38UCSC Ensembl
Outerchr2:239779626..239780334hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954073, essv6864565, essv6883605, essv6742507, essv6844279, essv6880766, essv6788622, essv6672754, essv6785526, essv6899001, essv6917934, essv6836641, essv6762130, essv6938158, essv6914386, essv6910545, essv6759413, essv6829447, essv6861930, essv6889434, essv6770018, essv6804793, essv6793796, essv6926098
SamplesSSM100, SSM083, SSM071, SSM065, SSM097, SSM009, SSM074, SSM069, SSM061, SSM062, SSM089, SSM017, SSM019, SSM094, SSM001, SSM085, SSM081, SSM015, SSM016, SSM053, SSM005, SSM022, SSM095, SSM004
Known GenesTWIST2
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)esv2721788
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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