A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643641



Internal ID6683712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9752807..9761344hg38UCSC Ensembl
Innerchr19:9753307..9760844hg38UCSC Ensembl
Outerchr19:9751807..9762344hg38UCSC Ensembl
chr19:9863483..9872020hg19UCSC Ensembl
Innerchr19:9863983..9871520hg19UCSC Ensembl
Outerchr19:9862483..9873020hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388538
hg198538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990207, essv15990198, essv15990183, essv15990208, essv15990240, essv15990206, essv15990242, essv15990216, essv15990205, essv15990197, essv15990245, essv15990209, essv15990232, essv15990204, essv15990193, essv15990201, essv15990221, essv15990220, essv15990244, essv15990210, essv15990188, essv15990219, essv15990237, essv15990202, essv15990229, essv15990186, essv15990226, essv15990228, essv15990238, essv15990190, essv15990230, essv15990212, essv15990192, essv15990239, essv15990184, essv15990217, essv15990200, essv15990227, essv15990224, essv15990189, essv15990211, essv15990191, essv15990234, essv15990185, essv15990213, essv15990241, essv15990203, essv15990199, essv15990194, essv15990215, essv15990187, essv15990231, essv15990218, essv15990225, essv15990223, essv15990233, essv15990195, essv15990196, essv15990222, essv15990243, essv15990236, essv15990235, essv15990214
SamplesNA20281, NA19625, NA19712, HG02546, NA19435, HG02943, NA19317, HG02887, HG01049, HG03048, NA19320, NA19378, HG03380, NA18488, HG03159, HG02308, HG03558, HG03470, HG03575, HG03484, HG03300, HG02643, HG03464, HG02143, NA20282, HG03079, NA19036, NA19153, HG02442, NA19129, HG02449, HG02054, HG01989, HG01914, HG03511, HG03514, HG01139, NA19347, HG03069, NA19141, HG02345, HG03385, HG03108, NA19235, HG03363, HG02281, HG03499, HG02953, NA19116, NA20318, NA19434, HG03198, HG03105, NA18864, NA20317, HG01951, NA19095, NA19171, HG03557, HG01892, HG03117, HG03517, NA19456
Known GenesZNF846
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643641
Frequency
Sample Size2504
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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