A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721177



Internal ID10304813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177350063..177351642hg38UCSC Ensembl
Outerchr2:178214791..178216370hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381580
hg191580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880376, essv6955474, essv6769947, essv6781336, essv6898947, essv6793738, essv6946920, essv6704217, essv6804740, essv6679591, essv6840388, essv6669663, essv6922183, essv6777349, essv6847665, essv6864481, essv6933762, essv6880730
SamplesSSM100, SSM071, SSM024, SSM011, SSM065, SSM074, SSM084, SSM021, SSM018, SSM026, SSM089, SSM094, SSM031, SSM067, SSM033, SSM068, SSM040, SSM012
Known GenesLOC100130691
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)esv2721177
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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