A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721014



Internal ID9955310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157619734..157621199hg38UCSC Ensembl
Outerchr2:158476246..158477711hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840380
SamplesSSM084
Known GenesACVR1C
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)esv2721014
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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