A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719027



Internal ID9953319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56197648..56239159hg38UCSC Ensembl
Outerchr19:56709017..56750528hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3841512
hg1941512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946220, essv6937405, essv6753352, essv6858859, essv6925439, essv6797195, essv6782443, essv6852880, essv6863695, essv6784718, essv6764058, essv6839737, essv6761713, essv6937406, essv6832353, essv6782454, essv6835941, essv6874521, essv6874519, essv6946221, essv6714004, essv6694465, essv6714005, essv6902309, essv6667454, essv6756394, essv6729383, essv6694476, essv6674889, essv6925438, essv6750448, essv6696768, essv6696769, essv6666574, essv6773196, essv6948274, essv6902308, essv6815076, essv6738675, essv6773197, essv6714006, essv6820954, essv6913745, essv6741960
SamplesSSM008, SSM083, SSM071, SSM046, SSM065, SSM087, SSM009, SSM050, SSM042, SSM088, SSM057, SSM023, SSM058, SSM021, SSM018, SSM061, SSM029, SSM062, SSM003, SSM031, SSM086, SSM068, SSM081, SSM082, SSM015, SSM078, SSM005, SSM037, SSM091, SSM004, SSM052, SSM056, SSM012
Known GenesZSCAN5A
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)esv2719027
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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