A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304296



Internal ID14804558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522819..179522820hg38UCSC Ensembl
Innerchr1:179522800..179522839hg38UCSC Ensembl
Outerchr1:179522799..179522840hg38UCSC Ensembl
chr1:179491954..179491955hg19UCSC Ensembl
Innerchr1:179491935..179491974hg19UCSC Ensembl
Outerchr1:179491934..179491975hg19UCSC Ensembl
chr1:177758577..177758578hg18UCSC Ensembl
Innerchr1:177758597..177758558hg18UCSC Ensembl
Outerchr1:177758557..177758598hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7804064, essv7835269, essv7781667, essv7822955, essv7776011, essv7778240, essv7826593, essv7816908, essv7819586, essv7814509, essv7801485, essv7815081, essv7785073, essv7821044, essv7801801, essv7819341, essv7780814, essv7773996, essv7774424, essv7822359, essv7803449, essv7823190, essv7802644, essv7808129, essv7786512, essv7829138, essv7811958, essv7818478, essv7791737, essv7779437, essv7793674, essv7818820, essv7817793, essv7795844, essv7812764, essv7830643, essv7810460, essv7815505, essv7824215, essv7780699, essv7774582, essv7785135, essv7777330, essv7808999, essv7810108, essv7796729, essv7803147, essv7782790, essv7791231, essv7783144, essv7823782, essv7798400, essv7770802, essv7821506
SamplesNA18964, NA12043, NA18605, NA07347, NA07037, NA18501, NA18526, NA11918, NA18570, NA12815, NA10847, NA18603, NA18948, NA11931, NA18953, NA18573, NA18507, NA12776, NA07051, NA19108, NA18965, NA12287, NA18943, NA18949, NA11919, NA12004, NA18576, NA07357, NA12873, NA18638, NA18959, NA18547, NA18973, NA18593, NA18537, NA18572, NA19005, NA18558, NA18564, NA18562, NA18579, NA18945, NA18582, NA18552, NA18907, NA12749, NA12812, NA18577, NA19225, NA12045, NA12717, NA12874, NA18532, NA18853
Known GenesAXDND1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304296
Frequency
Sample Size185
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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