A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745567



Internal ID3293519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12246086..13092998hg38UCSC Ensembl
Outerchr12:12399020..13245932hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38846913
hg19846913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805676, essv6755539, essv6687398, essv6940337, essv6920179, essv6735180, essv6936116, essv6899266, essv6851159, essv6965759, essv6771965, essv6879485, essv6819672, essv6716791, essv6706213, essv6873680, essv6977158, essv6845945, essv6758219, essv6876659, essv6857177, essv6737882, essv6924335, essv6702444, essv6749676
SamplesSSM022, SSM027, SSM092, SSM086, SSM091, SSM040, SSM078, SSM043, SSM039, SSM050, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM029, SSM021, SSM087, SSM049, SSM008, SSM018, SSM058, SSM059
Known GenesAPOLD1, CDKN1B, CREBL2, DDX47, DUSP16, GPR19, GPRC5A, GPRC5D, GSG1, HEBP1, HTR7P1, KIAA1467, LOC100506314, LOH12CR1, LOH12CR2, LRP6, MANSC1, MIR613, MIR614, RPL13AP20
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)esv2745567
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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