A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746025



Internal ID10326995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70733035..70733714hg38UCSC Ensembl
Outerchr12:71126815..71127494hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673198, essv6702482, essv6920220, essv6685119, essv6959315, essv6772364, essv6823661, essv6949123, essv6677853, essv6912635, essv6827735, essv6728360, essv6695577, essv6709528, essv6970845, essv6977244, essv6924380
SamplesSSM008, SSM024, SSM046, SSM079, SSM039, SSM041, SSM028, SSM018, SSM029, SSM026, SSM017, SSM032, SSM031, SSM015, SSM080, SSM037, SSM034
Known GenesPTPRR
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)esv2746025
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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