A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718038



Internal ID9952329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5075999..5076905hg38UCSC Ensembl
Outerchr19:5076010..5076916hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666373, essv6928749, essv6946083, essv6788786, essv6692412, essv6703502, essv6871449, essv6706986, essv6971889, essv6950141, essv6960943, essv6839619, essv6733134, essv6696657, essv6843489, essv6921298, essv6674746, essv6784613, essv6678841, essv6717794, essv6967423, essv6729290, essv6713911, essv6725466, essv6835835, essv6685892, essv6816291, essv6828692, essv6932912, essv6941387, essv6721653
SamplesSSM022, SSM027, SSM082, SSM036, SSM084, SSM042, SSM040, SSM043, SSM090, SSM031, SSM020, SSM032, SSM039, SSM024, SSM045, SSM083, SSM077, SSM017, SSM028, SSM029, SSM047, SSM069, SSM037, SSM034, SSM046, SSM019, SSM023, SSM068, SSM044, SSM026, SSM080
Known GenesKDM4B
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)esv2718038
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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