A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734746



Internal ID9969076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82099407..82099733hg38UCSC Ensembl
Outerchr7:81728723..81729049hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841526, essv6723541, essv6907890, essv6701417, essv6930783, essv6794983, essv6861243, essv6778511, essv6975326, essv6957525, essv6948120, essv6969717, essv6899940, essv6964223, essv6811552, essv6671593, essv6681088, essv6915324, essv6849619, essv6727429, essv6731179, essv6890462, essv6837733, essv6782509, essv6834070, essv6826715, essv6855684, essv6715825, essv6878844, essv6705318
SamplesSSM027, SSM082, SSM086, SSM084, SSM040, SSM043, SSM088, SSM031, SSM020, SSM071, SSM016, SSM039, SSM024, SSM045, SSM067, SSM083, SSM097, SSM005, SSM093, SSM100, SSM028, SSM029, SSM047, SSM087, SSM046, SSM068, SSM026, SSM014, SSM076, SSM080
Known GenesCACNA2D1
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)esv2734746
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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