A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748482



Internal ID10329452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23705761..23706135hg38UCSC Ensembl
Outerchr14:24174970..24175344hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741296, essv6940602, essv6966212, essv6862688, essv6772325, essv6857608, essv6695829, essv6909115, essv6688478, essv6977698, essv6755761, essv6867481, essv6891493, essv6885245, essv6796286, essv6959700, essv6882514, essv6709713, essv6673586, essv6953506, essv6851610, essv6820010
SamplesSSM071, SSM027, SSM065, SSM087, SSM097, SSM088, SSM041, SSM058, SSM029, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM086, SSM078, SSM037, SSM022, SSM095, SSM025, SSM052
Known Genes
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)esv2748482
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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