A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745667



Internal ID9979951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27281049..27281382hg38UCSC Ensembl
Outerchr12:27433982..27434315hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862377, essv6882311, essv6977180, essv6819685, essv6851177, essv6857193, essv6894644, essv6809378, essv6728330, essv6720682, essv6823620, essv6827695, essv6673147, essv6787754, essv6865632, essv6842439, essv6677813, essv6900646, essv6688290, essv6959260, essv6812217, essv6949094, essv6685080, essv6965771, essv6891279, essv6867155, essv6908875, essv6834882
SamplesSSM027, SSM082, SSM086, SSM084, SSM078, SSM088, SSM089, SSM031, SSM035, SSM032, SSM024, SSM094, SSM097, SSM100, SSM011, SSM029, SSM069, SSM034, SSM087, SSM046, SSM079, SSM044, SSM075, SSM026, SSM014, SSM098, SSM076, SSM080
Known GenesSTK38L
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)esv2745667
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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