A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721549



Internal ID3272045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227193434..227194238hg38UCSC Ensembl
Outerchr2:228058150..228058954hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669732, essv6872075, essv6840426, essv6973221, essv6859757, essv6726300, essv6714690, essv6789638, essv6730051, essv6793774, essv6704248, essv6788421, essv6946965, essv6769993, essv6898985, essv6833013, essv6804771, essv6847766, essv6848076, essv6820020
SamplesSSM010, SSM065, SSM082, SSM086, SSM091, SSM084, SSM040, SSM043, SSM088, SSM031, SSM071, SSM024, SSM100, SSM009, SSM011, SSM029, 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)esv2721549
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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