A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749138



Internal ID10330108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101524452..101524878hg38UCSC Ensembl
Outerchr14:101990789..101991215hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815730, essv6792183, essv6835179, essv6862776, essv6909184, essv6857722, essv6831623, essv6838915, essv6688530, essv6868621, essv6724788, essv6941607, essv6678141, essv6879707, essv6945308, essv6673699, essv6932196, essv6685371, essv6695902, essv6721003, essv6702779, essv6867556, essv6800559, essv6809636, essv6959832, essv6768747, essv6966322, essv6891548, essv6894938, essv6888248, essv6851723, essv6749908
SamplesSSM083, SSM027, SSM075, SSM045, SSM011, SSM064, SSM087, SSM097, SSM039, SSM093, SSM088, SSM023, SSM096, SSM026, SSM089, SSM035, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM081, SSM072, SSM082, SSM020, SSM037, SSM077, SSM070, SSM034, SSM098, SSM056
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)esv2749138
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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