A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641012



Internal ID7027786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63881125..63910810hg38UCSC Ensembl
Innerchr17:63881625..63910310hg38UCSC Ensembl
Outerchr17:63880125..63911810hg38UCSC Ensembl
chr17:61958485..61988170hg19UCSC Ensembl
Innerchr17:61958985..61987670hg19UCSC Ensembl
Outerchr17:61957485..61989170hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3829686
hg1929686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15722648, essv15722653, essv15722646, essv15722647, essv15722644, essv15722650, essv15722645, essv15722651, essv15722642, essv15722652, essv15722643, essv15722649
SamplesNA19777, HG01947, NA20775, HG02943, HG00290, NA20770, HG00099, HG01530, NA20522, NA20785, HG02348, HG01566
Known GenesCSH1, CSHL1, GH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641012
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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