A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718791



Internal ID9953083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52592639..52594374hg38UCSC Ensembl
Outerchr19:53095892..53097627hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381736
hg191736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764040, essv6747600, essv6946182, essv6928823, essv6883088, essv6674848, essv6807180, essv6696740, essv6689087, essv6835901, essv6871518, essv6874731, essv6741939, essv6950226, essv6901419, essv6914996, essv6880254, essv6863659, essv6782066, essv6941481, essv6797160, essv6666523, essv6713980, essv6839700, essv6877472, essv6784931, essv6744758, essv6668757, essv6773174, essv6685941, essv6812985
SamplesSSM100, SSM008, SSM083, SSM071, SSM024, SSM011, SSM065, SSM093, SSM074, SSM042, SSM088, SSM002, SSM023, SSM092, SSM090, SSM029, SSM062, SSM019, SSM035, SSM094, SSM031, SSM001, SSM082, SSM053, SSM037, SSM076, SSM022, SSM055, SSM034, SSM052, SSM030
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)esv2718791
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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