A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718554



Internal ID10302190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39591076..39698148hg38UCSC Ensembl
Outerchr19:40081716..40188788hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38107073
hg19107073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832302, essv6824672, essv6921375, essv6868423, essv6947862, essv6905854, essv6883069, essv6761676, essv6812966, essv6756345, essv6863626, essv6832301, essv6769286, essv6843549, essv6756346, essv6880236, essv6971953, essv6874452, essv6921376, essv6858791, essv6917134, essv6971952, essv6666933, essv6932972, essv6773146, essv6717176, essv6766361, essv6914785, essv6766360, essv6868422, essv6941448, essv6852818, essv6816333, essv6810149, essv6717852
SamplesSSM075, SSM064, SSM079, SSM065, SSM087, SSM013, SSM093, SSM088, SSM002, SSM058, SSM028, SSM084, SSM061, SSM089, SSM017, SSM094, SSM003, SSM086, SSM006, SSM081, SSM020, SSM016, SSM077, SSM076, SSM022, SSM091, SSM004, SSM043, SSM063
Known GenesLGALS13, LGALS16, LGALS17A, LOC100129935
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)esv2718554
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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