A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2724799

Internal ID9959101
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2389121..2389660hg38UCSC Ensembl
Outerchr3:2430805..2431344hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825534, essv6921073, essv6785551, essv6711074, essv6914404, essv6968499, essv6929626, essv6917951, essv6726337, essv6892762, essv6962380, essv6938179, essv6773914, essv6718631, essv6840468, essv6766903, essv6788755, essv6722480, essv6955623, essv6689716, essv6821667, essv6739270, essv6954262, essv6793819, essv6933843, essv6693341, essv6881176, essv6922266, essv6847828, essv6667144, essv6730093, essv6833048, essv6973318, essv6854014, essv6844302, essv6947010, essv6753154, essv6777437, essv6951080, essv6910570, essv6714739, essv6869094, essv6872103, essv6789682, essv6700172, essv6669793, essv6807774, essv6906642, essv6770045
SamplesSSM065, SSM022, SSM027, SSM082, SSM086, SSM036, SSM091, SSM084, SSM042, SSM043, SSM090, SSM064, SSM031, SSM025, SSM020, SSM071, SSM016, SSM039, SSM024, SSM045, SSM067, SSM012, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM069, SSM021, SSM037, SSM087, SSM046, SSM079, SSM052, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM070, SSM080
Known GenesCNTN4
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2724799
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0

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