A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721594



Internal ID9955890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230295549..230405436hg38UCSC Ensembl
Outerchr2:231160264..231270151hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38109888
hg19109888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914371, essv6942337, essv6807750, essv6714693, essv6820043, essv6910524, essv6748130, essv6880786, essv6675662, essv6951030, essv6848597, essv6880775, essv6848098, essv6968453, essv6722343, essv6917911, essv6801963, essv6902960, essv6793775, essv6864539, essv6968452, essv6955551, essv6697325, essv6973229, essv6753873, essv6777386, essv6821631, essv6906606, essv6898987, essv6872077, essv6788432, essv6764476, essv6722438, essv6672643, essv6807749, essv6828931, essv6804774, essv6777385, essv6962314, essv6730056
SamplesSSM100, SSM071, SSM027, SSM075, SSM045, SSM011, SSM079, SSM038, SSM013, SSM009, SSM073, SSM074, SSM002, SSM023, SSM058, SSM028, SSM047, SSM029, SSM026, SSM089, SSM017, SSM032, SSM067, SSM001, SSM014, SSM007, SSM015, SSM016, SSM005, SSM010, SSM091, SSM025, SSM043, SSM056, SSM063, SSM012
Known GenesSP140, SP140L
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)esv2721594
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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