A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745416



Internal ID9979700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2685683..2743643hg38UCSC Ensembl
Outerchr12:2794849..2852809hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857961
hg1957961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924291, essv6743993, essv6716749, essv6927894, essv6712951, essv6791814, essv6702409, essv6710822, essv6771464, essv6737943, essv6965717, essv6737954, essv6834599, essv6953182, essv6842396, essv6809338, essv6970759, essv6749650, essv6768465, essv6916083, essv6908329, essv6771475, essv6772014, essv6735147, essv6873638, essv6936081, essv6867097
SamplesSSM008, SSM027, SSM075, SSM064, SSM065, SSM039, SSM042, SSM002, SSM028, SSM084, SSM021, SSM018, SSM089, SSM019, SSM006, SSM007, SSM016, SSM053, SSM010, SSM091, SSM070, SSM025, SSM043, SSM049, SSM056
Known GenesCACNA1C, CACNA1C-AS1
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)esv2745416
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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