A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595048



Internal ID6635323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3009870..3013803hg38UCSC Ensembl
Innerchr3:3009870..3013803hg38UCSC Ensembl
Outerchr3:3009746..3014085hg38UCSC Ensembl
chr3:3051554..3055487hg19UCSC Ensembl
Innerchr3:3051554..3055487hg19UCSC Ensembl
Outerchr3:3051430..3055769hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg383934
hg193934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10901964, essv10901965, essv10901967, essv10901969, essv10901966, essv10901971, essv10901973, essv10901970, essv10901972, essv10901975, essv10901974, essv10901968
SamplesHG01412, HG00177, HG00281, HG01072, HG00176, HG00321, HG00382, HG00383, NA12272, HG00269, HG00288, HG01097
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595048
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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