A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629487



Internal ID7016309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50757109..50762092hg38UCSC Ensembl
Innerchr12:50757159..50762042hg38UCSC Ensembl
Outerchr12:50757053..50762148hg38UCSC Ensembl
chr12:51150892..51155875hg19UCSC Ensembl
Innerchr12:51150942..51155825hg19UCSC Ensembl
Outerchr12:51150836..51155931hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384984
hg194984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14479939, essv14479940
SamplesHG01694, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629487
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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