A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718875



Internal ID9953167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54490268..54490816hg38UCSC Ensembl
Outerchr19:55001426..55002041hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38549
hg19616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950242, essv6780555, essv6725560, essv6696757, essv6792994, essv6925421, essv6898426, essv6852865, essv6858835, essv6741946, essv6863674, essv6954427, essv6961079, essv6674863, essv6846777, essv6703597, essv6937387, essv6917188, essv6666545, essv6913732, essv6902299, essv6717908, essv6839724, essv6832337, essv6843603, essv6694399, essv6782266, essv6933025
SamplesSSM008, SSM083, SSM024, SSM045, SSM087, SSM039, SSM088, SSM084, SSM021, SSM018, SSM029, SSM026, SSM031, SSM067, SSM086, SSM085, SSM081, SSM020, SSM015, SSM016, SSM005, SSM037, SSM070, SSM025, SSM099, SSM043, SSM052, SSM012
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)esv2718875
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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