A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727923



Internal ID9962235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85695924..85696232hg38UCSC Ensembl
Outerchr4:86617077..86617385hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825910, essv6767168, essv6790047, essv6918284, essv6872377, essv6869358, essv6686856, essv6725076, essv6690023, essv6805070, essv6840812, essv6704589, essv6802228, essv6711422, essv6693703, essv6929996, essv6973924, essv6893075, essv6785937, essv6734050, essv6942828, essv6926425, essv6670349, essv6798371, essv6726681, essv6770355, essv6924096, essv6676061, essv6718947, essv6910881, essv6756209, essv6934205, essv6697600, essv6865026, essv6667302, essv6762345, essv6848372, essv6751229, essv6722822
SamplesSSM036, SSM008, SSM045, SSM046, SSM064, SSM065, SSM038, SSM073, SSM074, SSM042, SSM057, SSM023, SSM084, SSM090, SSM021, SSM069, SSM029, SSM062, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM086, SSM040, SSM072, SSM020, SSM007, SSM015, SSM080, SSM037, SSM091, SSM070, SSM098, SSM049, SSM030
Known GenesARHGAP24
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)esv2727923
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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