A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735332



Internal ID9969662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149581366..149629380hg38UCSC Ensembl
Outerchr7:149278457..149326471hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3848015
hg1948015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932073, essv6907984, essv6795061, essv6731247, essv6676958, essv6727505, essv6765253, essv6870094, essv6694618, essv6887327, essv6701500, essv6923446, essv6841610, essv6891177, essv6858553, essv6706087, essv6723617, essv6935136, essv6826807, essv6746208, essv6939416, essv6845274, essv6782592, essv6964484, essv6891188, essv6943876, essv6731609, essv6919272, essv6764253, essv6774923, essv6873085, essv6861346, essv6712211, essv6808728, essv6684338, essv6948212
SamplesSSM008, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM039, SSM042, SSM088, SSM023, SSM084, SSM090, SSM021, SSM047, SSM018, SSM096, SSM017, SSM032, SSM003, SSM014, SSM066, SSM006, SSM085, SSM068, SSM007, SSM080, SSM037, SSM022, SSM091, SSM055, SSM034, SSM004, SSM063, SSM012
Known GenesZNF767
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)esv2735332
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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