A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721552



Internal ID3272048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227193917..227194212hg38UCSC Ensembl
Outerchr2:228058633..228058928hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669732, essv6872075, essv6840426, essv6859757, essv6726300, essv6714690, essv6789638, essv6730051, essv6704248, essv6946965, essv6898985, essv6833013, essv6804771, essv6847766, essv6848076
SamplesSSM082, SSM086, SSM091, SSM084, SSM040, SSM043, SSM088, SSM031, SSM024, SSM100, SSM011, SSM047, SSM046, SSM074, SSM070
Known GenesCOL4A3
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)esv2721552
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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