A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746596



Internal ID10327566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126463259..126622309hg38UCSC Ensembl
Outerchr12:126947805..127106855hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38159051
hg19159051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711632, essv6866488, essv6977351, essv6835499, essv6912687, essv6866476, essv6953305, essv6900110, essv6673271, essv6977349, essv6668256, essv6945044
SamplesSSM011, SSM023, SSM029, SSM031, SSM006, SSM015, SSM010, SSM025, SSM030, SSM012
Known GenesLOC100128554
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)esv2746596
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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