A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743497



Internal ID10324467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8645606..8646559hg38UCSC Ensembl
Outerchr1:8705665..8706618hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853223, essv6780859, essv6748220, essv6946482, essv6910032, essv6902523, essv6793273, essv6950139, essv6738800, essv6967919, essv6714231, essv6692752, essv6950541, essv6721997, essv6668935, essv6729611, essv6876665, essv6847000, essv6917414, essv6916596, essv6689251, essv6972324, essv6954728, essv6789142, essv6824972, essv6769508, essv6679157, essv6832590, essv6699591, essv6784985, essv6921704, essv6773428
SamplesSSM036, SSM008, SSM071, SSM024, SSM045, SSM065, SSM087, SSM039, SSM013, SSM028, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM003, SSM031, SSM086, SSM033, SSM066, SSM068, SSM082, SSM015, SSM080, SSM037, SSM070, SSM025, SSM004, SSM043, SSM052, SSM012
Known GenesRERE
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)esv2743497
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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