A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720607



Internal ID10304243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190628258..190629331hg38UCSC Ensembl
Outerchr1:190597388..190598461hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933447, essv6781022, essv6736089, essv6836317, essv6699750, essv6917576, essv6843999, essv6829136, essv6906246, essv6738941, essv6902666, essv6813287, essv6722128, essv6961772, essv6773578, essv6946622, essv6917884, essv6801736, essv6868828, essv6750717, essv6759172, essv6877976, essv6968081, essv6840101, essv6853447, essv6972606, essv6921877, essv6692919, essv6950692, essv6954968, essv6719876, essv6929205, essv6747901, essv6749809, essv6886089, essv6941945
SamplesSSM008, SSM083, SSM027, SSM024, SSM045, SSM087, SSM039, SSM013, SSM073, SSM050, SSM057, SSM023, SSM028, SSM084, SSM090, SSM021, SSM018, SSM061, SSM029, SSM096, SSM026, SSM017, SSM003, SSM014, SSM066, SSM085, SSM068, SSM081, SSM020, SSM007, SSM037, SSM077, SSM025, SSM052, SSM056, SSM012
Known GenesLOC440704
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)esv2720607
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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