A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718176



Internal ID9952467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11211261..11211821hg38UCSC Ensembl
Outerchr19:11321937..11322497hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797084, essv6784623, essv6839627, essv6937289, essv6696670, essv6954325, essv6682515, essv6832261, essv6902208, essv6792896, essv6729299, essv6971902, essv6703516, essv6852758, essv6674762, essv6921310
SamplesSSM086, SSM033, SSM031, SSM025, SSM071, SSM039, SSM083, SSM012, SSM017, SSM028, SSM021, SSM037, SSM046, SSM068, SSM081, SSM070
Known GenesDOCK6
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)esv2718176
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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