A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630436



Internal ID7017254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95775491..95779801hg38UCSC Ensembl
Innerchr12:95775517..95779775hg38UCSC Ensembl
Outerchr12:95775465..95779827hg38UCSC Ensembl
chr12:96169269..96173579hg19UCSC Ensembl
Innerchr12:96169295..96173553hg19UCSC Ensembl
Outerchr12:96169243..96173605hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384311
hg194311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14575585, essv14575583, essv14575586, essv14575581, essv14575582, essv14575584
SamplesNA19066, NA18988, HG03685, NA18516, NA19000, HG02660
Known GenesNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630436
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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