A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14414923



Internal ID4416739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25197701..25205778hg38UCSC Ensembl
Innerchr12:25197701..25205778hg38UCSC Ensembl
Outerchr12:25197201..25206278hg38UCSC Ensembl
chr12:25350635..25358712hg19UCSC Ensembl
Innerchr12:25350635..25358712hg19UCSC Ensembl
Outerchr12:25350135..25359212hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg388078
hg198078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628892
Supporting Variants
SamplesHG02104
Known GenesKRAS, LYRM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14414923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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