A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724801



Internal ID9959103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2389243..2389877hg38UCSC Ensembl
Outerchr3:2430927..2431561hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785551, essv6711074, essv6914404, essv6968499, essv6929626, essv6917951, essv6726337, essv6962380, essv6938179, essv6840468, essv6766903, essv6788755, essv6955623, essv6689716, essv6821667, essv6954262, essv6793819, essv6933843, essv6881176, essv6730093, essv6973318, essv6854014, essv6844302, essv6951080, essv6910570, essv6714739, essv6906642
SamplesSSM022, SSM027, SSM036, SSM084, SSM042, SSM043, SSM064, SSM025, SSM020, SSM071, SSM016, SSM012, SSM085, SSM017, SSM009, SSM028, SSM029, SSM047, SSM069, SSM021, SSM087, SSM046, SSM079, SSM004, SSM015, SSM026, SSM014
Known GenesCNTN4
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)esv2724801
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer