A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600245



Internal ID6987289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37460939..37462152hg38UCSC Ensembl
Innerchr4:37460939..37462152hg38UCSC Ensembl
Outerchr4:37460686..37462441hg38UCSC Ensembl
chr4:37462561..37463774hg19UCSC Ensembl
Innerchr4:37462561..37463774hg19UCSC Ensembl
Outerchr4:37462308..37464063hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11395649, essv11395674, essv11395654, essv11395670, essv11395644, essv11395648, essv11395651, essv11395672, essv11395676, essv11395667, essv11395645, essv11395675, essv11395646, essv11395660, essv11395664, essv11395650, essv11395641, essv11395668, essv11395642, essv11395662, essv11395652, essv11395671, essv11395665, essv11395647, essv11395669, essv11395663, essv11395673, essv11395643, essv11395655, essv11395658, essv11395659, essv11395657, essv11395666, essv11395653, essv11395656, essv11395661
SamplesHG03548, NA19020, NA19350, NA19920, NA19374, HG02811, HG03485, NA19916, HG03105, HG01110, NA19917, NA19137, NA19471, NA19239, NA18908, HG02882, NA18867, NA19327, HG02508, HG02497, HG03294, NA19461, NA19042, HG01182, NA19320, HG02484, NA19017, NA19390, NA20281, NA19376, NA19323, NA18501, NA19468, HG01883, NA19430, NA19463
Known GenesC4orf19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600245
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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